TTC1:Ensemblv115

tetratricopeptide repeat domain 1
OMIM: 601963, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red TTC1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related